Non Ivasive Prenatal Diagnosis (NIPD) of Cystic Fibrosis
NCT ID: NCT02130648
Last Updated: 2014-12-31
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
50 participants
OBSERVATIONAL
2012-10-31
2016-04-30
Brief Summary
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Detailed Description
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The investigators propose to develop and validate an analytical and clinical NIPD test for cystic fibrosis from maternal blood by analysis circulating free fetal DNA (cff-DNA), searching for the paternal mutation in families with CFTR compound heterozygosity.
The test method based on MEMO associated with a platform for real-time PCR can be used for the detection of trace DNA mutant. This technique is commonly used for mutations in mosaic (less than 1%) of genes common cancers. Positive detection of the paternal mutation is always checked by a second mini-sequencing technique.
Prior to any specific CFTR test, the DNA profile of each sample will be determined using a commercial kit of Mini STR adapted to study casework. A tri-allelic profile for markers will prove the presence of fetal DNA in the studied specimen and will thus limit false negatives associated with the lack or insufficient amounts of cff-DNA.
The validation step of the investigators analytical methods will be made on chimeric DNA control samples artificially created. Then the test will be clinicaly validated by a retrospective study of maternal serum from pregnant women, who have been the subject of PND or PGD (preimplantation genetic diagnosis) of CF request in the laboratory during the study period (2012 to 2013).
The investigators structure is a reference center for PGD, PND and NBS (newborn screening) of cystic fibrosis. The samples will be collected in accordance with current regulations.The pre-analytical sample treatment will be done in real time and plasma will be stored for the second step of the study.
The validation of the proposed tests will permit :
* To have an external quality control (QC) confirming the presence of a minor DNA in the studied sample. This QC could be used for all NIPD tests based on the search of a genomic sequence absent from the maternal genome
* To have a highly sensitive method to detect trace mutant DNA which can be develop for new NIPD tests in other monogenic diseases by detecting mutations of the same nature.
The investigators project, limited to the search for the paternal allele in the family with CFTR compound heterozygosity, is a first step in the implementation of a prenatal diagnosis approach of cystic fibrosis that the investigators aim to develop in order to to reduce invasive procedures.
Conditions
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Keywords
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Study Design
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CASE_ONLY
PROSPECTIVE
Study Groups
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Prenatal diagnosis
Prenatal diagnosis witch A sampling of blood de 14 ml
A sampling of blood
A sampling of blood de 14 ml
Interventions
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A sampling of blood
A sampling of blood de 14 ml
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
18 Years
FEMALE
Yes
Sponsors
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University Hospital, Montpellier
OTHER
Responsible Party
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Principal Investigators
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Mireille CLAUSTRES
Role: PRINCIPAL_INVESTIGATOR
Laboratoire de Genetique Moleculaire Institut de Recherche Clinique INSERM 827 640, avenue du Doyen giraud 34295 MONTPELLIER cedex 5
Locations
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Centre hospitalier Universitaire de Montpellier
Montpellier, , France
Countries
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Central Contacts
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Facility Contacts
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Anne VERCHERE
Role: primary
Sandrine BARBAS
Role: backup
Other Identifiers
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UF9039
Identifier Type: -
Identifier Source: org_study_id